Global Variome shared LOVD

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Phenotype #0000238103 Individual ID 00311378 Associated disease neuropathy, optic Phenotype details Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Optic nerve hypoplasia (HP:0000609); Abnormality of temperature regulation (HP:0004370); Optic atrophy (HP:0000648) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Benjamin Billiet Database submission license No license selected Created by Benjamin Billiet Date created 2020-10-05 16:48:51 +02:00 (CEST) Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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